OpenSplice: the impact of half a million mutations on the alternative splicing of 600 human exons https://www.biorxiv.org/content/10.64898/2026.05.22.727141v1
Atlas
"We have created a comprehensive resource of both common and low-frequency genetic variants associated with 249 metabolic traits in up to 619,372 individuals across multiple ancestry groups.'
www.nature.com/articles/s41...
Excited to release #OpenSplice - the impact of >500,000 mutations on the alternative splicing of 600 human exons
www.biorxiv.org/content/10.6...
Led by @gioia-quarantani.bsky.social + funded by @opentargets.org @sangerinstitute.bsky.social @crg.eu
#cshlsymp26 #RNA2026 @rnasociety.bsky.social